ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Liver Cirrhosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs367956522
rs367956522 		0.851 0.240 13 51949798 splice acceptor variant T/C snv 2.4E-05 7.7E-05
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0